Q29P (p.Gln29Pro) variant of HTT (Huntingtin)
Q29P (p.Gln29Pro) in HTT (Huntingtin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- rs1469776724
- ClinGen CA2823100
- ClinVar RCV002951378
- gnomAD rs1469776724
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)